A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5847



Internal ID15543547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209050594..209093352hg38UCSC Ensembl
Outerchr2:209915318..209958076hg19UCSC Ensembl
Outerchr2:209623563..209666321hg18UCSC Ensembl
Outerchr2:209740824..209783582hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3842759
hg1942759
hg1842759
hg1742759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3139
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5847
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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